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NDFIP2 Nedd4 family interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 54602, updated on 17-Jun-2019

Summary

Official Symbol
NDFIP2provided by HGNC
Official Full Name
Nedd4 family interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:18537
See related
Ensembl:ENSG00000102471 MIM:610041
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
N4WBP5A
Expression
Ubiquitous expression in brain (RPKM 31.7), skin (RPKM 21.9) and 24 other tissues See more
Orthologs

Genomic context

See NDFIP2 in Genome Data Viewer
Location:
13q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (79480722..79556077)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (80055259..80130212)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 26 Neighboring gene RNA, 5S ribosomal pseudogene 33 Neighboring gene RBM26 antisense RNA 1 Neighboring gene uncharacterized LOC105370274 Neighboring gene NDFIP2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1068 Neighboring gene VISTA enhancer hs1471

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25842, KIAA1165

Gene Ontology Provided by GOA

Function Evidence Code Pubs
WW domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
metal ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling HMP PubMed 
positive regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuolar transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
multivesicular body membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NEDD4 family-interacting protein 2
Names
MAPK-activating protein PM04 PM05 PM06 PM07
NEDD4 WW domain-binding protein 5A
NF-kappa-B-activating protein 413
putative MAPK-activating protein PM04/PM05/PM06/PM07
putative NF-kappa-B-activating protein 413

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161407.1NP_001154879.1  NEDD4 family-interacting protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter isoform (2) compared to isoform 1.
    Source sequence(s)
    AK294839, AL136442, AL355603, BM976935
    UniProtKB/TrEMBL
    B4DGY6
  2. NM_019080.2NP_061953.2  NEDD4 family-interacting protein 2 isoform 1

    See identical proteins and their annotated locations for NP_061953.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB097029, AL136442, BM976935, DC320871
    Consensus CDS
    CCDS31998.1
    UniProtKB/Swiss-Prot
    Q9NV92
    Related
    ENSP00000480798.1, ENST00000612570.4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    79480722..79556077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719840.3XP_006719903.1  NEDD4 family-interacting protein 2 isoform X1

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